HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50910085G>C , CM000676.2:g.50910085G>C | GRCh38 |
NC_000014.8:g.51376803G>C , CM000676.1:g.51376803G>C | GRCh37 |
NC_000014.7:g.50446553G>C | NCBI36 |
NG_012796.1:g.39446C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216392.8:c.1987C>G MANE Select | ENSP00000216392.7:p.Leu663Val | |
ENST00000216392.7:c.1987C>G | ENSP00000216392.7:p.Leu663Val | |
ENST00000532107.2:n.160C>G | ||
ENST00000532462.5:c.1987C>G | ENSP00000431657.1:p.Leu663Val | |
ENST00000544180.6:c.1885C>G | ENSP00000443787.1:p.Leu629Val | |
NM_001163940.1:c.1885C>G | NP_001157412.1:p.Leu629Val | |
NM_002863.4:c.1987C>G | NP_002854.3:p.Leu663Val | |
NM_002863.5:c.1987C>G MANE Select | NP_002854.3:p.Leu663Val | |
NM_001163940.2:c.1885C>G | NP_001157412.1:p.Leu629Val |